Primary Ciliary DyskinesiaNCT04702243
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
An observational study of Primary Ciliary Dyskinesia and Primary Immune Deficiency, run by University of North Carolina, Chapel Hill at 8 sites in 2 countries.
Trial summary
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD). Read more about this study
- Who is it for?
- Ages 5 to 45 years
- Conditions the study is for
- Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome
- What is being tested?
- Genetic Testing for PCD or PID and Unaffected Family Member Genetic Testing
- How many people
- 436 participants
- Where
- 8 sitesin 2 countries
- Study dates
- 1 Dec 2020to 6 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Subjects who have suppurative lung disease but without a defined genetic diagnosis.
Who may be able to join
- General Criteria
- Age 5-45 years
- Male and Female Subjects
- All races and ethnicities
- Major Clinical Criteria
- Bronchiectasis in > 1 lobe
Show all 19Show fewer
- Minor Clinical Criteria, Lung
- Neonatal respiratory distress (in term neonates with O2 requirement)
- Chronic wet cough (year-round for at least 12 months)
- Recurrent episodes of bacterial bronchitis
- Recurrent pneumonia (confirmed on chest x-ray)
- Respiratory non-tuberculous mycobacteria (NTM) (documented respiratory NTM culture)
- Minor Clinical Criteria, Other
- Chronic nasal congestion
- Recurrent/chronic paranasal sinusitis
- Ongoing middle-ear disease and/or tympanostomy tube placement at age ≥ 4 years
- Organ laterality defect
- Low nasal nitric oxide (< 77 nL/min) (by plateau measurement)
- Confirmed family history of PID or PCD
Who cannot join
- Anyone who has a confirmed genetic diagnosis of PCD or PID
- Cystic Fibrosis
- Alpha-antitrypsin deficiency in adults (18 years and older)
- Congenital upper or lower airway anomalies
- Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
- Other confounding features, such as lung disease due to prematurity (born < 28 weeks gestation) or HIV
Show all 9Show fewer
- Neurological compromise and evidence of recurrent aspiration
- Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
- Have not had standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration or airway anatomic abnormalities.
Trial locations and contacts
8 sites in 2 countries.
8 sites in 2 countries
United States6 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
National Heart, Lung and Blood Institute
Bethesda, Maryland, 20814
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
Stanford University
Palo Alto, California, 94304
Seattle Children's Hospital
Seattle, Washington, 98105
Washington University in St. Louis
St Louis, Missouri, 63130
Canada2 sites
McGill University
Montreal, Quebec, H4A 3J1
The Hospital for Sick Children
Toronto, Ontario, M5G 0A4
About this study
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).
Read the detailed description
This protocol utilizes a cross-sectional study design. Over a 5-year period, the investigators will enroll patients who have clinical and lab features characteristic of a PID disorder or PCD, but do not have a confirmed genetic diagnosis. Innovative, standardized methods (SOPs) will be utilized, including ciliary ultrastructural analyses by transmission electron microscopy (TEM), as pertinent. Measures of nasal nitric oxide (nNO) will be performed in all subjects to allow comparisons of nNO values in PID vs. PCD. Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes. All subjects who do not have a genetic diagnosis from the test panels will undergo whole exome sequencing (WES) to search for novel genetic etiologies for PID or PCD.
- Being tested
- Genetic Testing for PCD or PID, Unaffected Family Member Genetic Testing
- Medical subject headings
- Ciliary Motility Disorders, Primary Immunodeficiency Diseases, Kartagener Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic Testing for PCD or PIDDiagnostic test
Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes.
Unaffected Family Member Genetic TestingOther
Unaffected family members will undergo genetic testing if genetic findings are identified in their affected family member.
| Study group | Role | What they receive |
|---|---|---|
| Affected Participants | Subjects who have suppurative lung disease without a known genetic diagnosis Receives: Diagnostic Test: Genetic Testing for PCD or PID | |
| Unaffected Family Members | Unaffected family members may be enrolled in the study for collection of DNA only Receives: Other: Unaffected Family Member Genetic Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with a Confirmed Diagnosis of PCD or PID
A commercial genetic panel will be used to test for disease causing mutation in PCD or PID. If the commercial panel does not yield positive results, WES research testing will be used to identify disease causing mutations in PCD and PID in order to confirm the diagnosis.
Measured: Up to approximately 4 years
Prevalence of Neonatal Respiratory Distress Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of neonatal respiratory distress (occurs at birth).
Measured: During a single 6-hour visit
Prevalence of the Onset of Chronic Nasal Congestion Before Six Months of Age Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of the onset of chronic nasal congestion before age 6 months.
Measured: During a single 6-hour visit
Prevalence of the Onset of Daily Wet Cough Before Six Months of Age Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of the onset of daily wet cough before age 6 months.
Measured: During a single 6-hour visit
Prevalence of Laterality Defects Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of laterality defects (situs inversus/heterotaxy).
Measured: During a single 6-hour visit
Prevalence of Chronic/Recurrent Sinus Disease Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of chronic/recurrent sinus disease.
Measured: During a single 6-hour visit
Prevalence of Chronic/Recurrent Middle Ear Disease Seen in PCD and PID
Medical records will be reviewed to denote presence or absence of chronic/recurrent middle ear disease.
Measured: During a single 6-hour visit
Prevalence of Recurrent Pneumonia/Sepsis Seen in PCD and PID
Medical records will be reviewed to denote to denote presence or absence of recurrent pneumonia/sepsis (that is not bronchiectasis).
Measured: During a single 6-hour visit
Prevalence of Skin Infections/Abscesses Seen in PCD and PID
Medical records will be reviewed to denote to denote presence or absence of skin infections/abscesses.
Measured: During a single 6-hour visit
Prevalence of Abnormal Nasal Nitric Oxide Values Seen in PCD and PID
Nasal nitric oxide will be measured to determine the number of subjects who have an abnormal value, utilizing a cut-off of 77 nl/min.
Measured: During a single 6-hour visit
Prevalence of Abnormal Immunoglobulin G Values Seen in PCD and PID
Immunoglobulin G will be measured to determine the number of subjects who have an abnormal value, utilizing the local laboratory age-defined cut-off ranges (United States: mg/dL; Canada: g/L).
Measured: During a single 6-hour visit
Prevalence of Abnormal Lymphocyte Markers Seen in PCD and PID (Laboratory Tests)
Lymphocyte Markers will be measured to determine the number of subjects who have an abnormal value, utilizing the local laboratory age-defined cut-off ranges (% of lymphocytes).
Measured: During a single 6-hour visit
Mean FEV1 Percent Predicted Values in PCD and PID
Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).
Measured: During a single 6-hour visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Jan 2021
- Study start1 Dec 2020
- Primary completion6 Aug 2025
- Study completion6 Aug 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- More trials run by University of North Carolina, Chapel HillThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 436 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of North Carolina, Chapel Hill
- Sponsor type
- University, hospital or other
- Collaborators
- Washington University School of Medicine, National Heart, Lung, and Blood Institute (NHLBI), Children's Hospital Colorado, Stanford University, Seattle Children's Hospital, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati
- Responsible party
- Sponsor
- Investigators
- Kenneth Olivier, MD, MPH, Principal investigator, University of North Carolina, Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04702243
- Sponsor's protocol ID
- 20-0508
- Other IDs
- 5U54HL096458-17
- Status last verified
- Aug 2025
- First submitted
- 16 Dec 2020
- Last updated
- 21 Aug 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
- ClinicalTrials.gov ID
- NCT04702243
- Acronym / sponsor ID
- 20-0508
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 436 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- Washington University School of Medicine, National Heart, Lung, and Blood Institute (NHLBI), Children's Hospital Colorado, Stanford University, Seattle Children's Hospital, The Hospital for Sick Children, McGill University, Children's Hospital Medical Center, Cincinnati
- Study start
- 1 Dec 2020 (actual)
- Primary completion
- 6 Aug 2025 (actual)
- Study completion
- 6 Aug 2025 (actual)
- First posted
- 8 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).
Detailed description
This protocol utilizes a cross-sectional study design. Over a 5-year period, the investigators will enroll patients who have clinical and lab features characteristic of a PID disorder or PCD, but do not have a confirmed genetic diagnosis. Innovative, standardized methods (SOPs) will be utilized, including ciliary ultrastructural analyses by transmission electron microscopy (TEM), as pertinent. Measures of nasal nitric oxide (nNO) will be performed in all subjects to allow comparisons of nNO values in PID vs. PCD. Patients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes. All subjects who do not have a genetic diagnosis from the test panels will undergo whole exome sequencing (WES) to search for novel genetic etiologies for PID or PCD.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected Participants | – | Diagnostic Test: Genetic Testing for PCD or PIDSubjects who have suppurative lung disease without a known genetic diagnosis |
| Unaffected Family Members | – | Other: Unaffected Family Member Genetic TestingUnaffected family members may be enrolled in the study for collection of DNA only |
Who may qualify
- Ages
- 5 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Subjects who have suppurative lung disease but without a defined genetic diagnosis.
Key inclusion criteria (19 listed)
- General Criteria
- Age 5-45 years
- Male and Female Subjects
- All races and ethnicities
- Major Clinical Criteria
Key exclusion criteria (9 listed)
- Anyone who has a confirmed genetic diagnosis of PCD or PID
- Cystic Fibrosis
- Alpha-antitrypsin deficiency in adults (18 years and older)
- Congenital upper or lower airway anomalies
- Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic Testing for PCD or PIDPatients with high likelihood of a PID disorder or a high likelihood of PCD will initially undergo research genetic testing on a commercial approved panel for PID disorders or a panel of at least 37 PCD genes. | Diagnostic test | Affected Participants |
| Unaffected Family Member Genetic TestingUnaffected family members will undergo genetic testing if genetic findings are identified in their affected family member. | Other | Unaffected Family Members |
Primary outcome
Number of Participants with a Confirmed Diagnosis of PCD or PID
Time frame: Up to approximately 4 years
A commercial genetic panel will be used to test for disease causing mutation in PCD or PID. If the commercial panel does not yield positive results, WES research testing will be used to identify disease causing mutations in PCD and PID in order to confirm the diagnosis.
Prevalence of Neonatal Respiratory Distress Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of neonatal respiratory distress (occurs at birth).
Prevalence of the Onset of Chronic Nasal Congestion Before Six Months of Age Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of the onset of chronic nasal congestion before age 6 months.
Prevalence of the Onset of Daily Wet Cough Before Six Months of Age Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of the onset of daily wet cough before age 6 months.
Prevalence of Laterality Defects Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of laterality defects (situs inversus/heterotaxy).
Prevalence of Chronic/Recurrent Sinus Disease Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of chronic/recurrent sinus disease.
Prevalence of Chronic/Recurrent Middle Ear Disease Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote presence or absence of chronic/recurrent middle ear disease.
Prevalence of Recurrent Pneumonia/Sepsis Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote to denote presence or absence of recurrent pneumonia/sepsis (that is not bronchiectasis).
Prevalence of Skin Infections/Abscesses Seen in PCD and PID
Time frame: During a single 6-hour visit
Medical records will be reviewed to denote to denote presence or absence of skin infections/abscesses.
Prevalence of Abnormal Nasal Nitric Oxide Values Seen in PCD and PID
Time frame: During a single 6-hour visit
Nasal nitric oxide will be measured to determine the number of subjects who have an abnormal value, utilizing a cut-off of 77 nl/min.
Prevalence of Abnormal Immunoglobulin G Values Seen in PCD and PID
Time frame: During a single 6-hour visit
Immunoglobulin G will be measured to determine the number of subjects who have an abnormal value, utilizing the local laboratory age-defined cut-off ranges (United States: mg/dL; Canada: g/L).
Prevalence of Abnormal Lymphocyte Markers Seen in PCD and PID (Laboratory Tests)
Time frame: During a single 6-hour visit
Lymphocyte Markers will be measured to determine the number of subjects who have an abnormal value, utilizing the local laboratory age-defined cut-off ranges (% of lymphocytes).
Mean FEV1 Percent Predicted Values in PCD and PID
Time frame: During a single 6-hour visit
Forced expired volume in 1 second (FEV1) will be assessed by percentage of the predicted value (0-100%).
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Aug 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kenneth Olivier, MD, MPH principal investigator
University of North Carolina, Chapel Hill
8 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia and Primary Immune Deficiency, run by University of North Carolina, Chapel Hill at 8 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 19 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 21 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with a Confirmed Diagnosis of PCD or PID (time frame: Up to approximately 4 years). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Aug 2025.